Canonical Allele Identifier: CA13423838
Community Standard Title: NM_001346413.3(PCF11):c.703-372T>G
Gene: PCF11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.83165228T>G , CM000673.2:g.83165228T>G GRCh38
NC_000011.9:g.82876270T>G , CM000673.1:g.82876270T>G GRCh37
NC_000011.8:g.82553918T>G NCBI36
NG_051805.1:g.13134T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001346413.3:c.703-372T>G MANE Select NP_001333342.1:n.703-372T>G
ENST00000690938.1:c.703-372T>G MANE Select ENSP00000508500.1:n.703-372T>G
NM_001346413.1:c.703-372T>G NP_001333342.1:n.703-372T>G
NM_001346413.2:c.703-372T>G NP_001333342.1:n.703-372T>G
NM_001346414.1:c.703-372T>G NP_001333343.1:n.703-372T>G
NM_001346414.2:c.703-372T>G NP_001333343.1:n.703-372T>G
NM_001346415.1:c.703-372T>G NP_001333344.1:n.703-372T>G
NM_001346415.2:c.703-372T>G NP_001333344.1:n.703-372T>G
NM_015885.3:c.703-372T>G NP_056969.2:n.703-372T>G
NM_015885.4:c.703-372T>G NP_056969.2:n.703-372T>G
ENST00000298281.8:c.703-372T>G ENSP00000298281.4:n.703-372T>G
ENST00000530304.5:c.703-372T>G ENSP00000431567.1:n.703-372T>G
ENST00000530660.5:c.703-372T>G ENSP00000434540.1:n.703-372T>G
ENST00000620955.1:c.703-372T>G ENSP00000479505.1:n.703-372T>G
XM_005274048.1:c.703-372T>G XP_005274105.1:n.703-372T>G
XM_005274049.1:c.703-372T>G XP_005274106.1:n.703-372T>G
XR_001747905.1:n.1048-372T>G
XR_001747906.1:n.1048-372T>G